Associated Genetic Biomarkers
Associated Diseases
Associated Pathways

Overview

Location [1]
17q12
Pathway
Receptor tyrosine kinase/growth factor signaling
Protein [2]
Receptor tyrosine-protein kinase erbB-2
Synonyms [1]
NEU, TKR1, NGL, HER-2/neu, "MLN 19", HER2, HER-2, CD340

ERBB2 (v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2, also known as HER2 and neu) is a gene that encodes for the receptor tyrosine-protein kinase erbB-2. ERBB2 has been found to be amplified with an increased copy number in several cancers (PMID: 20185938). Amplification of ERBB2 promotes tumorigenesis and pathogenesis of several human cancers (PMID: 17471238). Recently, in breast cancer patients without ERBB2 gene amplification, activating ERBB2 mutations have also been identified (PMID: 23220880).

ERBB2 is altered in 5.46% of all cancers with breast carcinoma, non-small cell lung carcinoma, colorectal adenocarcinoma, bladder carcinoma, and uterine corpus neoplasm having the greatest prevalence of alterations [3].

ERBB2 GENIE Cases - Top Diseases

The most common alterations in ERBB2 are ERBB2 Amplification (3.82%), ERBB2 Mutation (3.69%), ERBB2 S310F (0.32%), ERBB2 Y772_A775dup (0.28%), and ERBB2 L755S (0.23%) [3].

ERBB2 GENIE Cases - Top Alterations

Biomarker-Directed Therapies

Significance of ERBB2 in Diseases

Breast Carcinoma +

Non-Small Cell Lung Carcinoma +

Gastric Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Malignant Esophageal Neoplasm +

Malignant Solid Tumor +

Ovarian Carcinoma +

Colorectal Carcinoma +

Gastric Adenocarcinoma +

Melanoma +

Head And Neck Squamous Cell Carcinoma +

Pancreatic Carcinoma +

Renal Cell Carcinoma +

Urothelial Carcinoma +

Small Cell Lung Carcinoma +

Fallopian Tube Carcinoma +

Esophageal Carcinoma +

Endometrial Carcinoma +

Prostate Carcinoma +

Primary Peritoneal Carcinoma +

Breast Adenocarcinoma +

Bladder Carcinoma +

Lymphoma +

Hepatocellular Carcinoma +

Cervical Carcinoma +

Head And Neck Carcinoma +

Glioblastoma +

Pancreatic Adenocarcinoma +

Ductal Carcinoma In Situ +

Soft Tissue Sarcoma +

Breast Invasive Ductal Carcinoma +

Colorectal Adenocarcinoma +

Cancer +

Sarcoma +

Non-Hodgkin Lymphoma +

Pancreatic Ductal Adenocarcinoma +

Esophageal Adenocarcinoma +

Squamous Cell Lung Carcinoma +

Multiple Myeloma +

Nasopharyngeal Carcinoma +

Peritoneal Mesothelioma +

Inflammatory Breast Carcinoma +

Cholangiocarcinoma +

Mesothelioma +

Peritoneal Carcinoma +

Esophagogastric Carcinoma +

Esophageal Squamous Cell Carcinoma +

Diffuse Large B-Cell Lymphoma +

Malignant Ovarian Epithelial Tumor +

Acute Myeloid Leukemia +

Gastrointestinal Stromal Tumor +

Merkel Cell Carcinoma +

Pleural Mesothelioma +

Lobular Breast Carcinoma +

Gallbladder Carcinoma +

Endometrial Adenocarcinoma +

Colon Carcinoma +

Malignant Salivary Gland Neoplasm +

Chronic Lymphocytic Leukemia +

Bile Duct Carcinoma +

Lung Carcinoma +

Thymic Carcinoma +

Leukemia +

Myelodysplastic Syndromes +

Prostate Adenocarcinoma +

Ureter Urothelial Carcinoma +

Salivary Duct Carcinoma +

Salivary Carcinoma, NOS +

Small Intestinal Adenocarcinoma +

Bladder Urothelial Carcinoma +

Salivary Gland Adenocarcinoma +

Small Intestinal Carcinoma +

Infiltrating Renal Pelvis And Ureter Urothelial Carcinoma +

Ampulla Of Vater Carcinoma +

Digestive System Carcinoma +

Urethral Carcinoma +

Extrahepatic Cholangiocarcinoma +

Ovarian Endometrioid Tumor +

Uterine Corpus Carcinosarcoma +

Cervical Squamous Cell Carcinoma +

Salivary Gland Acinic Cell Carcinoma +

Carcinoma +

Lung Adenocarcinoma +

Malignant Ovarian Clear Cell Tumor +

Hematopoietic And Lymphoid Malignancy +

Oropharyngeal Squamous Cell Carcinoma +

Nasal Cavity And Paranasal Sinus Carcinoma +

High Grade Ovarian Serous Adenocarcinoma +

Neuroendocrine Carcinoma +

Oral Cavity Squamous Cell Carcinoma +

Laryngeal Squamous Cell Carcinoma +

Malignant Glioma +

Thyroid Gland Carcinoma +

Pancreatic Neuroendocrine Neoplasm +

Anaplastic Astrocytoma +

Intrahepatic Cholangiocarcinoma +

Leiomyosarcoma +

Ovarian Epithelial Tumor +

Clear Cell Renal Cell Carcinoma +

Medulloblastoma +

Papillary Renal Cell Carcinoma +

Rhabdomyosarcoma +

Glioma +

Acute Lymphoblastic Leukemia +

Malignant Bone Marrow Neoplasm +

Adenoid Cystic Carcinoma +

B-Cell Neoplasm +

B-Cell Non-Hodgkin Lymphoma +

Biliary Tract Neoplasm +

Brain Metastasis +

Breast Lobular Carcinoma In Situ +

Central Nervous System Neoplasm +

Classical Hodgkin Lymphoma +

Diffuse Gastric Adenocarcinoma +

Ependymoma +

Ewing Sarcoma +

Fallopian Tube Clear Cell Adenocarcinoma +

Fallopian Tube Endometrioid Adenocarcinoma +

Gastric Squamous Cell Carcinoma +

Germ Cell Tumor +

Hepatobiliary Neoplasm +

High Grade Fallopian Tube Serous Adenocarcinoma +

Histiocytic And Dendritic Cell Neoplasm +

Hypopharyngeal Squamous Cell Carcinoma +

Lip And Oral Cavity Carcinoma +

Malignant Laryngeal Neoplasm +

Malignant Pleural Mesothelioma +

Malignant Thyroid Gland Neoplasm +

Mantle Cell Lymphoma +

NUT Midline Carcinoma Of The Head And Neck +

Oropharyngeal Carcinoma +

Primary Peritoneal Serous Adenocarcinoma +

Renal Carcinoma +

Renal Pelvis Urothelial Carcinoma +

Renal Pelvis And Ureter Carcinoma +

Salivary Gland Carcinoma Ex Pleomorphic Adenoma +

Salivary Gland Mucoepidermoid Carcinoma +

Salivary Gland Small Cell Carcinoma +

Salivary Gland Squamous Cell Carcinoma +

T-Cell And NK-Cell Neoplasm +

Thymoma +

Thyroid Gland Follicular Carcinoma +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20170629. San Francisco CA: Github;2015. https://github.com/biocommons/uta

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 4. This dataset does not represent the totality of the genetic landscape; see paper for more information.

4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.